Quality of life of adult patients with hereditary fructose intolerance.

Background: Although patients with hereditary fructose intolerance (HFI) generally have a good prognosis on a fructose-restricted diet, relatively little is known about their quality of life. The aim of this study was to investigate the quality of life in adult patients with HFI in comparison to patients with dietary-treated, classical phenylketonuria (PKU).

Methods: Patients with HFI and patients with classical PKU were recruited from the adult metabolic centers in The Netherlands and Belgium and via social media.

Development of tools to facilitate the diagnosis of hereditary fructose intolerance.

Although hereditary fructose intolerance (HFI) is an inborn error of fructose metabolism that classically presents at infancy, the diagnosis is often missed or delayed. In this study, we aimed to develop tools to facilitate the diagnosis of HFI. The intake of fructose-containing food products, that is, fruit, fruit juice and sugar-sweetened beverages, was assessed by a 3-day food diary in adult HFI patients ( = 15) and age, sex, and BMI-matched controls ( = 15).

Developing a patient portal for haematology patients requires involvement of all stakeholders and a customised design, tailored to the individual needs.

Background: Electronic patient portals are increasingly being implemented, also in (haemato) oncology. However, portal usage is low and depends on user and provider engagement. We explored wishes, expectations and thoughts of patients with a haematologic malignancy and their physicians with regard to the electronic patient portal.